Polymorphysm and connection with risk factors of some genes of predisposition to cardiovascular diseases in ethnic groups in Siberia (molecular-epidemiological and evolution-genetic aspects)
Bibliographic record
Abstract
Analysis of mitochondrial DNA polymorphism in different ethnic groups in Euro-Asia testify to risk the possibility of their formation from the same ancient human population in Control and Middle Asia with the initial divergence of western and eastern poles contrast in anthropology and genetics and with the following radial divergence with modern ethnic groups. The closest to the ancestral state of western protopopulation is gene pool of suburban ethnic groups in Europe and West Siberia. The important role in forming peculiarities of nuclear genes polymorphism belonged to its adaptive meaning. The levels of ApoE and ACE genes polymorphism in European Siberian population is close to that registered in West Europe. The frequency of E2, E3 and E4 alleles of ApoE gene were 0.057; 0.823 and 0.120 accordingly. The frequency of I and D alleles of ApoE gene were 0.477 and 0.523 accordingly. In the native population of Chukotka in case with ApoE gene only E3 and E4 alleles and frequency 0.826 and 0.174 were revealed. Frequency of I and D alleles of ACE gene were 0.6890 and 0.320. According to polymorphism level of ApoE and ACE genes the natives of Chukotka differ from European ethnic groups and are close to the native population of the artic region of North America. ACE gene polymorphism in European Siberian population is not associated with AP levels. In Chukotka natives significant association of ACE gene polymorphism with pulse AP was revealed. The frequency of D/D genotype of Alu-insertion polymorphism of APF gene is reliably increasing after 50 years of age in male European population in Novosibirsk. In the age group 45-64 the decrease of the frequency of homo- and heterozygous genotypes of ACE gene with insertion of Alu-element is observed, maybe, due to higher mortality level among their carrier. In the European male population in West Siberia ApoE gene polymorphism is reliably associated with variability of cholesterol and triglyceride levels, mainly at the expense of E2 allele. The increase of their levels in the raw of E2/2, 2/3, 2/4 genotypes was found. In Chukotka natives ApoE polymorphism is connected with variability of cholesterol levels in women. It was revealed that in the population of arctic mongoloids in Chukotka and North America specific alleles variant of ApoB 3405Glu is wide spread. Its frequency is 0.090, 0.180 and 0.175 in chukchies and Canadian Eskimos accordingly. The presence of thus allele in the genotype leady to the increase of cholesterol level in women independently and in interaction with ApoE polymorphism. There are some difference in genotypes and alleles frequency by this polymorphism in sex groups. The new c-fms gene polymorphism was found spread both in European and mongoloids populations of North Asia. The frequency of more rare allele is 0.231 in male European population in Novosibirsk and 0.236 in natives of Chukotka. This polymorphism is characterized by differences in genotypes frequency between age groups and is significantly associated with variability of Ch-HDL level in Novosibirsk men.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".